MYOCD myocardin
Gene ID: 93649, updated on 24-Jun-2024Gene type: protein coding
Also known as: MGBL; MYCD
- See all available tests in GTR for this gene
- Go to complete Gene record for MYOCD
- Go to Variation Viewer for MYOCD variants
Summary
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. GeneReviews: Not available | |
Megabladder, congenital | See labs |
Genomic context
- Location:
- 17p12
- Sequence:
- Chromosome: 17; NC_000017.11 (12665890..12768949)
- Total number of exons:
- 15
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for MYOCD variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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